Retinal cases & brief reports · 2026
A Spectrum of Severity of a Unifying Retinal Phenotype in TUBB4B-Associated Inherited Retinal Degeneration.
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Zhang Sophia, Avery Robert A, Wu Vivian, Sumaroka Alexander, Kim Rebecca J, Maripuri Devi P, Datz Emily, Weber Mariejel L, Roman Alejandro J, Tsang Steven H, Cideciyan Artur V, Aleman Tomas S, O'Neil Erin C
Аннотация
PURPOSE: To increase our understanding of TUBB4B-associated autosomal dominant retinal degenerations through in-depth retinal phenotyping.
METHODS: Two patients with pathogenic heterozygous variants in TUBB4B underwent a comprehensive ophthalmic exam, multimodal imaging with spectral domain optical coherence tomography (SD-OCT), ultra-widefield fundus imaging and short-wavelength (SW) and near infrared (NIR) fundus autofluorescence (FAF). Kinetic and chromatic dark- and light-adapted perimetry co-localized to the SD-OCT scans was performed in the older patient.
RESULTS: A 4 year old, high hyperope (+7D) boy sensorineural hearing loss (SNHL) since one year of age presented with surface elevation of the optic nerves concerning for papilledema. Visual acuities were 20/50 and 20/60 for the right and left eye, respectively. Evaluation revealed optic disc drusen, low-grade foveal hypoplasia and a retina-wide photoreceptor degeneration, most severe in the pericentral retinal sparing of the foveal center. A 43 year-old ∼6D myope woman with a 10-year-history of subtle visual field loss presented with normal visual acuities and generalized constriction of her kinetic fields. There as a retina-wide degeneration with a severe pericentral component encircled a normally laminated central island of normal rod- and cone photoreceptor function by chromatic perimetry. She reported no hearing loss. Genetic testing revealed heterozygous pathogenic variants in TUBB4B (c.1171C>T in the child, c.1168C>T variant in the adult patient).
CONCLUSIONS: We find in TUBB4B-associated retinal degeneration a predilection of disease to the pericentral retina with relative central sparing. The findings support a spectrum of severity within a recurring retinal phenotype that reconciles apparent phenotypic variability reported for this condition.
METHODS: Two patients with pathogenic heterozygous variants in TUBB4B underwent a comprehensive ophthalmic exam, multimodal imaging with spectral domain optical coherence tomography (SD-OCT), ultra-widefield fundus imaging and short-wavelength (SW) and near infrared (NIR) fundus autofluorescence (FAF). Kinetic and chromatic dark- and light-adapted perimetry co-localized to the SD-OCT scans was performed in the older patient.
RESULTS: A 4 year old, high hyperope (+7D) boy sensorineural hearing loss (SNHL) since one year of age presented with surface elevation of the optic nerves concerning for papilledema. Visual acuities were 20/50 and 20/60 for the right and left eye, respectively. Evaluation revealed optic disc drusen, low-grade foveal hypoplasia and a retina-wide photoreceptor degeneration, most severe in the pericentral retinal sparing of the foveal center. A 43 year-old ∼6D myope woman with a 10-year-history of subtle visual field loss presented with normal visual acuities and generalized constriction of her kinetic fields. There as a retina-wide degeneration with a severe pericentral component encircled a normally laminated central island of normal rod- and cone photoreceptor function by chromatic perimetry. She reported no hearing loss. Genetic testing revealed heterozygous pathogenic variants in TUBB4B (c.1171C>T in the child, c.1168C>T variant in the adult patient).
CONCLUSIONS: We find in TUBB4B-associated retinal degeneration a predilection of disease to the pericentral retina with relative central sparing. The findings support a spectrum of severity within a recurring retinal phenotype that reconciles apparent phenotypic variability reported for this condition.